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GeneQ18032767· pop 6· linked from 2 articles

Also known as DiGeorge syndrome critical region gene 6

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.

In the Vinony graph

Within Vinony's link graph, DGCR6 is referenced by 2 other articles, and connects out to Q180686, DiGeorge syndrome and human chromosome 22.

It is catalogued under the topic Genes on human chromosome 22.

Its subject is documented across 6 Wikipedia language editions.

Gene data

DGCR6
Name
DiGeorge syndrome critical region gene 6
Type
protein-coding
Position
18,905,677–18,916,623 (+)
RefSeq RNA
NM_001368242.2, NM_005675.6, XM_047441509.1, XM_047441510.1, XM_054325952.1
RefSeq protein
NP_001355171.1, NP_005666.2, XP_047297465.1, XP_047297466.1, XP_054181927.1

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008].

Gene Ontology

Molecular function

Cellular component

via MyGene.info

Gene · Ensembl

DiGeorge syndrome critical region gene 6

Symbol
DGCR6
Biotype
Protein coding
Organism
Homo sapiens
Location
22:18,905,677-18,916,623
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
136000
cytogenetic location
22q11.21|22q11
genomic end
18901751
genomic start
18893541
Sources (3)

via Wikidata · CC0

~1 min read

Encyclopedic overview

2 sections
Contents
  • References
  • Further reading

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.

Excerpted from Wikipedia’s “DGCR6” article, available under the CC BY-SA 4.0 licence.

Available in 6 languages

via Wikidata sitelinks · CC0

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